Incidental Mutation 'R8774-TAIL:Tshz1'
| ID |
668005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tshz1
|
| Ensembl Gene |
ENSMUSG00000046982 |
| Gene Name |
teashirt zinc finger family member 1 |
| Synonyms |
Tsh1, teashirt1, D18Bwg1409e, Mtsh1, NY-CO-33, Sdccag33, 5730407I04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8774-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84029752-84105831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84033101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 436
(M436L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060303]
|
| AlphaFold |
Q5DTH5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060303
AA Change: M436L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: M436L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
195 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
246 |
270 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
307 |
331 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
416 |
440 |
5.34e0 |
SMART |
|
low complexity region
|
497 |
515 |
N/A |
INTRINSIC |
|
HOX
|
890 |
964 |
4.15e-4 |
SMART |
|
ZnF_C2H2
|
976 |
998 |
4.34e-1 |
SMART |
|
ZnF_C2H2
|
1044 |
1067 |
4.47e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,090,358 (GRCm39) |
S364P |
possibly damaging |
Het |
| Abcc2 |
T |
A |
19: 43,787,577 (GRCm39) |
Y208N |
probably damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,913 (GRCm39) |
D82E |
probably damaging |
Het |
| Ankub1 |
A |
G |
3: 57,597,802 (GRCm39) |
L56P |
probably damaging |
Het |
| Aoc1 |
T |
A |
6: 48,885,529 (GRCm39) |
F678Y |
probably damaging |
Het |
| Asxl3 |
C |
A |
18: 22,657,101 (GRCm39) |
Q1704K |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,595,571 (GRCm39) |
D236G |
probably damaging |
Het |
| Auh |
A |
T |
13: 52,993,631 (GRCm39) |
M261K |
probably benign |
Het |
| Blm |
TCC |
TCCGCC |
7: 80,162,655 (GRCm39) |
|
probably benign |
Het |
| Blm |
TCC |
TCCGCC |
7: 80,162,667 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTC |
CTCATC |
7: 80,162,666 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
A |
T |
1: 59,099,825 (GRCm39) |
M372K |
possibly damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,825,090 (GRCm39) |
N1287K |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,229,073 (GRCm39) |
S958P |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,680,810 (GRCm39) |
Q576L |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,854,692 (GRCm39) |
M2011K |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,529,820 (GRCm39) |
E676G |
probably benign |
Het |
| Cspp1 |
A |
T |
1: 10,183,139 (GRCm39) |
E781D |
possibly damaging |
Het |
| Cyb5d2 |
A |
C |
11: 72,679,901 (GRCm39) |
|
probably null |
Het |
| Epn3 |
G |
T |
11: 94,383,220 (GRCm39) |
P335T |
possibly damaging |
Het |
| Far2 |
T |
A |
6: 148,047,629 (GRCm39) |
S103T |
probably benign |
Het |
| Fhip1a |
G |
C |
3: 85,580,097 (GRCm39) |
Q703E |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,162,751 (GRCm39) |
S255P |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,932,321 (GRCm39) |
V100D |
|
Het |
| Gabbr1 |
T |
C |
17: 37,382,749 (GRCm39) |
L814P |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,394,193 (GRCm39) |
V234I |
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,415,207 (GRCm39) |
V1334A |
probably benign |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Klrg1 |
T |
C |
6: 122,255,193 (GRCm39) |
T80A |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,308,043 (GRCm39) |
N496S |
probably benign |
Het |
| Lsmem1 |
G |
T |
12: 40,227,145 (GRCm39) |
N113K |
probably damaging |
Het |
| Map3k2 |
G |
A |
18: 32,345,117 (GRCm39) |
S314N |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,387,032 (GRCm39) |
R361* |
probably null |
Het |
| Muc5b |
T |
A |
7: 141,418,831 (GRCm39) |
S3926T |
probably benign |
Het |
| Nat10 |
C |
A |
2: 103,561,752 (GRCm39) |
R643L |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,938,808 (GRCm39) |
V28A |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,257,984 (GRCm39) |
L534P |
possibly damaging |
Het |
| Nmi |
T |
C |
2: 51,848,974 (GRCm39) |
K39E |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,692 (GRCm39) |
N260D |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,166,318 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or51aa2 |
C |
A |
7: 103,187,965 (GRCm39) |
V159L |
probably benign |
Het |
| Or6c213 |
T |
A |
10: 129,573,926 (GRCm39) |
I287F |
probably damaging |
Het |
| Or8c19-ps1 |
G |
A |
9: 38,220,600 (GRCm39) |
A170T |
unknown |
Het |
| Pirb |
G |
T |
7: 3,720,728 (GRCm39) |
L257M |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,306,585 (GRCm39) |
D313V |
possibly damaging |
Het |
| Ppard |
G |
A |
17: 28,517,864 (GRCm39) |
V311I |
possibly damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,175 (GRCm39) |
M308K |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,852,436 (GRCm39) |
N208D |
possibly damaging |
Het |
| Robo1 |
T |
G |
16: 72,832,719 (GRCm39) |
D1497E |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,730,169 (GRCm39) |
D1022G |
probably damaging |
Het |
| Shc3 |
G |
A |
13: 51,615,475 (GRCm39) |
H161Y |
probably damaging |
Het |
| Slc15a1 |
G |
T |
14: 121,724,423 (GRCm39) |
Q150K |
probably damaging |
Het |
| Sod1 |
T |
G |
16: 90,023,039 (GRCm39) |
V120G |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,971,087 (GRCm39) |
L140P |
probably damaging |
Het |
| Sprr2f |
T |
A |
3: 92,273,323 (GRCm39) |
C41S |
unknown |
Het |
| Svil |
A |
T |
18: 5,049,068 (GRCm39) |
Y115F |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,877,917 (GRCm39) |
S400P |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,898,030 (GRCm39) |
D596E |
probably damaging |
Het |
| Ube3c |
C |
T |
5: 29,812,029 (GRCm39) |
T423I |
probably benign |
Het |
| Unc93a |
A |
T |
17: 13,341,837 (GRCm39) |
I98N |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,213 (GRCm39) |
Y624* |
probably null |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Zfp867 |
A |
G |
11: 59,354,837 (GRCm39) |
F164S |
probably damaging |
Het |
| Zswim1 |
C |
T |
2: 164,668,062 (GRCm39) |
T438I |
probably benign |
Het |
|
| Other mutations in Tshz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Tshz1
|
APN |
18 |
84,031,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02934:Tshz1
|
APN |
18 |
84,031,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU18:Tshz1
|
UTSW |
18 |
84,032,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Tshz1
|
UTSW |
18 |
84,031,375 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0052:Tshz1
|
UTSW |
18 |
84,033,070 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0052:Tshz1
|
UTSW |
18 |
84,033,070 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0364:Tshz1
|
UTSW |
18 |
84,034,249 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0391:Tshz1
|
UTSW |
18 |
84,034,174 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0515:Tshz1
|
UTSW |
18 |
84,034,090 (GRCm39) |
missense |
probably benign |
|
|
R0942:Tshz1
|
UTSW |
18 |
84,031,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0943:Tshz1
|
UTSW |
18 |
84,033,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1472:Tshz1
|
UTSW |
18 |
84,031,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1895:Tshz1
|
UTSW |
18 |
84,031,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Tshz1
|
UTSW |
18 |
84,031,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2860:Tshz1
|
UTSW |
18 |
84,033,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Tshz1
|
UTSW |
18 |
84,033,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4028:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4030:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4031:Tshz1
|
UTSW |
18 |
84,032,954 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4119:Tshz1
|
UTSW |
18 |
84,032,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4233:Tshz1
|
UTSW |
18 |
84,034,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4573:Tshz1
|
UTSW |
18 |
84,033,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Tshz1
|
UTSW |
18 |
84,031,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Tshz1
|
UTSW |
18 |
84,032,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5085:Tshz1
|
UTSW |
18 |
84,032,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5124:Tshz1
|
UTSW |
18 |
84,033,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5150:Tshz1
|
UTSW |
18 |
84,031,340 (GRCm39) |
nonsense |
probably null |
|
|
R5357:Tshz1
|
UTSW |
18 |
84,033,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Tshz1
|
UTSW |
18 |
84,031,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Tshz1
|
UTSW |
18 |
84,032,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Tshz1
|
UTSW |
18 |
84,032,086 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5778:Tshz1
|
UTSW |
18 |
84,033,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Tshz1
|
UTSW |
18 |
84,032,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Tshz1
|
UTSW |
18 |
84,033,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Tshz1
|
UTSW |
18 |
84,031,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6407:Tshz1
|
UTSW |
18 |
84,034,091 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6425:Tshz1
|
UTSW |
18 |
84,033,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6998:Tshz1
|
UTSW |
18 |
84,033,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7165:Tshz1
|
UTSW |
18 |
84,034,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Tshz1
|
UTSW |
18 |
84,032,944 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7330:Tshz1
|
UTSW |
18 |
84,032,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7491:Tshz1
|
UTSW |
18 |
84,033,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Tshz1
|
UTSW |
18 |
84,032,790 (GRCm39) |
nonsense |
probably null |
|
|
R7592:Tshz1
|
UTSW |
18 |
84,032,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Tshz1
|
UTSW |
18 |
84,034,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7702:Tshz1
|
UTSW |
18 |
84,032,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7844:Tshz1
|
UTSW |
18 |
84,032,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Tshz1
|
UTSW |
18 |
84,032,732 (GRCm39) |
nonsense |
probably null |
|
|
R7941:Tshz1
|
UTSW |
18 |
84,033,517 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7947:Tshz1
|
UTSW |
18 |
84,033,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Tshz1
|
UTSW |
18 |
84,032,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Tshz1
|
UTSW |
18 |
84,033,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Tshz1
|
UTSW |
18 |
84,033,101 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9029:Tshz1
|
UTSW |
18 |
84,031,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9031:Tshz1
|
UTSW |
18 |
84,032,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9573:Tshz1
|
UTSW |
18 |
84,032,404 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9584:Tshz1
|
UTSW |
18 |
84,033,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Tshz1
|
UTSW |
18 |
84,031,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9701:Tshz1
|
UTSW |
18 |
84,032,579 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
|
| Posted On |
2021-03-08 |
Incidental Mutation